| Disease | aortic valve insufficiency |
| Phenotype | C0020443|hypercholesterolemia |
| Sentences | 2 |
| PubMedID- 23381364 | A 46-year-old woman with homozygous familial hypercholesterolemia was referred due to aortic regurgitation. |
| PubMedID- 25444533 | Tuberous xanthoma as a presenting feature of familial homozygous hypercholesterolemia with aortic regurgitation. |
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